DFNB77
MCID: DFN108
MIFTS: 26

Deafness, Autosomal Recessive 77 (DFNB77)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 77

MalaCards integrated aliases for Deafness, Autosomal Recessive 77:

Name: Deafness, Autosomal Recessive 77 57 29 13 6 73
Dfnb77 57 12 75
Autosomal Recessive Nonsyndromic Deafness 77 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77 75
Deafness, Autosomal Recessive, Type 77 40
Deafness, Autosomal Recessive, 77 75
Autosomal Recessive Deafness 77 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families
onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family


HPO:

32
deafness, autosomal recessive 77:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613079
Disease Ontology 12 DOID:0110525
ICD10 33 H90.3
MedGen 42 C2746083
MeSH 44 D003638
SNOMED-CT via HPO 69 258211005 194424005
UMLS 73 C2746083

Summaries for Deafness, Autosomal Recessive 77

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 77: A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.

MalaCards based summary : Deafness, Autosomal Recessive 77, also known as dfnb77, is related to corneal dystrophy and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 77 is LOXHD1 (Lipoxygenase Homology Domains 1). Related phenotypes are bilateral sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the LOXHD1 gene on chromosome 18q21.

Description from OMIM: 613079

Related Diseases for Deafness, Autosomal Recessive 77

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 77 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 10.1
2 branchiootic syndrome 1 9.8 LOXHD1 PJVK
3 autosomal recessive nonsyndromic deafness 3 9.8 MYO3A PJVK
4 non-syndromic genetic deafness 9.7 LOXHD1 PJVK
5 deafness, autosomal recessive 9.6 LOXHD1 MYO3A PJVK
6 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 LOXHD1 MYO3A PJVK
7 nonsyndromic deafness 9.6 LOXHD1 MYO3A PJVK

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 77:



Diseases related to Deafness, Autosomal Recessive 77

Symptoms & Phenotypes for Deafness, Autosomal Recessive 77

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, bilateral (milder hearing loss at low frequencies)


Clinical features from OMIM:

613079

Human phenotypes related to Deafness, Autosomal Recessive 77:

32
# Description HPO Frequency HPO Source Accession
1 bilateral sensorineural hearing impairment 32 HP:0008619

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 77:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 MYO3A PJVK PLAT

Drugs & Therapeutics for Deafness, Autosomal Recessive 77

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 77

Genetic Tests for Deafness, Autosomal Recessive 77

Genetic tests related to Deafness, Autosomal Recessive 77:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 77 29 LOXHD1

Anatomical Context for Deafness, Autosomal Recessive 77

Publications for Deafness, Autosomal Recessive 77

Variations for Deafness, Autosomal Recessive 77

ClinVar genetic disease variations for Deafness, Autosomal Recessive 77:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 LOXHD1 NM_144612.6(LOXHD1): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs121918370 GRCh37 Chromosome 18, 44152088: 44152088
2 LOXHD1 NM_144612.6(LOXHD1): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs121918370 GRCh38 Chromosome 18, 46572125: 46572125
3 LOXHD1 NM_144612.6(LOXHD1): c.4714C> T (p.Arg1572Ter) single nucleotide variant Pathogenic/Likely pathogenic rs75949023 GRCh37 Chromosome 18, 44104697: 44104697
4 LOXHD1 NM_144612.6(LOXHD1): c.4714C> T (p.Arg1572Ter) single nucleotide variant Pathogenic/Likely pathogenic rs75949023 GRCh38 Chromosome 18, 46524734: 46524734
5 LOXHD1 NM_144612.6(LOXHD1): c.5864-15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs397517864 GRCh37 Chromosome 18, 44065129: 44065129
6 LOXHD1 NM_144612.6(LOXHD1): c.5864-15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs397517864 GRCh38 Chromosome 18, 46485166: 46485166
7 LOXHD1 NM_144612.6(LOXHD1): c.1571G> A (p.Arg524His) single nucleotide variant Uncertain significance rs187658135 GRCh37 Chromosome 18, 44171979: 44171979
8 LOXHD1 NM_144612.6(LOXHD1): c.1571G> A (p.Arg524His) single nucleotide variant Uncertain significance rs187658135 GRCh38 Chromosome 18, 46592016: 46592016
9 LOXHD1 NM_144612.6(LOXHD1): c.1742T> C (p.Val581Ala) single nucleotide variant Benign/Likely benign rs35007621 GRCh37 Chromosome 18, 44159660: 44159660
10 LOXHD1 NM_144612.6(LOXHD1): c.1742T> C (p.Val581Ala) single nucleotide variant Benign/Likely benign rs35007621 GRCh38 Chromosome 18, 46579697: 46579697
11 LOXHD1 NM_144612.6(LOXHD1): c.2080G> T (p.Asp694Tyr) single nucleotide variant Benign/Likely benign rs35727744 GRCh37 Chromosome 18, 44149569: 44149569
12 LOXHD1 NM_144612.6(LOXHD1): c.2080G> T (p.Asp694Tyr) single nucleotide variant Benign/Likely benign rs35727744 GRCh38 Chromosome 18, 46569606: 46569606
13 LOXHD1 NM_144612.6(LOXHD1): c.2251C> T (p.Arg751Trp) single nucleotide variant Uncertain significance rs376539851 GRCh37 Chromosome 18, 44146406: 44146406
14 LOXHD1 NM_144612.6(LOXHD1): c.2251C> T (p.Arg751Trp) single nucleotide variant Uncertain significance rs376539851 GRCh38 Chromosome 18, 46566443: 46566443
15 LOXHD1 NM_144612.6(LOXHD1): c.2T> A (p.Met1Lys) single nucleotide variant Benign rs36024592 GRCh37 Chromosome 18, 44236995: 44236995
16 LOXHD1 NM_144612.6(LOXHD1): c.2T> A (p.Met1Lys) single nucleotide variant Benign rs36024592 GRCh38 Chromosome 18, 46657032: 46657032
17 LOXHD1 NM_144612.6(LOXHD1): c.5127C> T (p.Gly1709=) single nucleotide variant Conflicting interpretations of pathogenicity rs373924055 GRCh37 Chromosome 18, 44098178: 44098178
18 LOXHD1 NM_144612.6(LOXHD1): c.5127C> T (p.Gly1709=) single nucleotide variant Conflicting interpretations of pathogenicity rs373924055 GRCh38 Chromosome 18, 46518215: 46518215
19 LOXHD1 NM_144612.6(LOXHD1): c.5224G> A (p.Glu1742Lys) single nucleotide variant Uncertain significance rs200242497 GRCh37 Chromosome 18, 44089768: 44089768
20 LOXHD1 NM_144612.6(LOXHD1): c.5224G> A (p.Glu1742Lys) single nucleotide variant Uncertain significance rs200242497 GRCh38 Chromosome 18, 46509805: 46509805
21 LOXHD1 NM_144612.6(LOXHD1): c.5616C> A (p.Asn1872Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61733519 GRCh37 Chromosome 18, 44085877: 44085877
22 LOXHD1 NM_144612.6(LOXHD1): c.5616C> A (p.Asn1872Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61733519 GRCh38 Chromosome 18, 46505914: 46505914
23 LOXHD1 NM_144612.6(LOXHD1): c.5554G> A (p.Gly1852Arg) single nucleotide variant Uncertain significance rs727504988 GRCh38 Chromosome 18, 46505976: 46505976
24 LOXHD1 NM_144612.6(LOXHD1): c.5554G> A (p.Gly1852Arg) single nucleotide variant Uncertain significance rs727504988 GRCh37 Chromosome 18, 44085939: 44085939
25 LOXHD1 NM_144612.6(LOXHD1): c.5214-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs528236655 GRCh37 Chromosome 18, 44089781: 44089781
26 LOXHD1 NM_144612.6(LOXHD1): c.5214-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs528236655 GRCh38 Chromosome 18, 46509818: 46509818
27 LOXHD1 NM_144612.6(LOXHD1): c.4526G> A (p.Gly1509Glu) single nucleotide variant Benign/Likely benign rs187587197 GRCh38 Chromosome 18, 46529181: 46529181
28 LOXHD1 NM_144612.6(LOXHD1): c.4526G> A (p.Gly1509Glu) single nucleotide variant Benign/Likely benign rs187587197 GRCh37 Chromosome 18, 44109144: 44109144
29 LOXHD1 NM_144612.6(LOXHD1): c.4480C> T (p.Arg1494Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201587138 GRCh38 Chromosome 18, 46529227: 46529227
30 LOXHD1 NM_144612.6(LOXHD1): c.4480C> T (p.Arg1494Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201587138 GRCh37 Chromosome 18, 44109190: 44109190
31 LOXHD1 NM_144612.6(LOXHD1): c.3162G> A (p.Thr1054=) single nucleotide variant Likely benign rs727503144 GRCh37 Chromosome 18, 44139465: 44139465
32 LOXHD1 NM_144612.6(LOXHD1): c.3162G> A (p.Thr1054=) single nucleotide variant Likely benign rs727503144 GRCh38 Chromosome 18, 46559502: 46559502
33 LOXHD1 NM_144612.6(LOXHD1): c.1945G> A (p.Asp649Asn) single nucleotide variant Likely benign rs141932807 GRCh38 Chromosome 18, 46577732: 46577732
34 LOXHD1 NM_144612.6(LOXHD1): c.1945G> A (p.Asp649Asn) single nucleotide variant Likely benign rs141932807 GRCh37 Chromosome 18, 44157695: 44157695
35 LOXHD1 NM_144612.6(LOXHD1): c.1476G> T (p.Trp492Cys) single nucleotide variant Uncertain significance rs369682197 GRCh37 Chromosome 18, 44172503: 44172503
36 LOXHD1 NM_144612.6(LOXHD1): c.1476G> T (p.Trp492Cys) single nucleotide variant Uncertain significance rs369682197 GRCh38 Chromosome 18, 46592540: 46592540
37 LOXHD1 NM_144612.6(LOXHD1): c.6057T> C (p.Cys2019=) single nucleotide variant Conflicting interpretations of pathogenicity rs199645176 GRCh38 Chromosome 18, 46483685: 46483685
38 LOXHD1 NM_144612.6(LOXHD1): c.6057T> C (p.Cys2019=) single nucleotide variant Conflicting interpretations of pathogenicity rs199645176 GRCh37 Chromosome 18, 44063648: 44063648
39 LOXHD1 NM_144612.6(LOXHD1): c.4822G> A (p.Val1608Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140042576 GRCh37 Chromosome 18, 44104483: 44104483
40 LOXHD1 NM_144612.6(LOXHD1): c.4822G> A (p.Val1608Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140042576 GRCh38 Chromosome 18, 46524520: 46524520
41 LOXHD1 NM_144612.6(LOXHD1): c.4217C> T (p.Ala1406Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146739496 GRCh38 Chromosome 18, 46533320: 46533320
42 LOXHD1 NM_144612.6(LOXHD1): c.4217C> T (p.Ala1406Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146739496 GRCh37 Chromosome 18, 44113283: 44113283
43 LOXHD1 NM_144612.6(LOXHD1): c.4149G> A (p.Thr1383=) single nucleotide variant Likely benign rs373657978 GRCh37 Chromosome 18, 44114361: 44114361
44 LOXHD1 NM_144612.6(LOXHD1): c.4149G> A (p.Thr1383=) single nucleotide variant Likely benign rs373657978 GRCh38 Chromosome 18, 46534398: 46534398
45 LOXHD1 NM_144612.6(LOXHD1): c.1843C> A (p.Arg615=) single nucleotide variant Benign/Likely benign rs112463030 GRCh38 Chromosome 18, 46577834: 46577834
46 LOXHD1 NM_144612.6(LOXHD1): c.1843C> A (p.Arg615=) single nucleotide variant Benign/Likely benign rs112463030 GRCh37 Chromosome 18, 44157797: 44157797
47 LOXHD1 NM_144612.6(LOXHD1): c.1810-6C> A single nucleotide variant Uncertain significance rs199804946 GRCh38 Chromosome 18, 46577873: 46577873
48 LOXHD1 NM_144612.6(LOXHD1): c.1810-6C> A single nucleotide variant Uncertain significance rs199804946 GRCh37 Chromosome 18, 44157836: 44157836
49 LOXHD1 NM_144612.6(LOXHD1): c.1730T> G (p.Leu577Arg) single nucleotide variant Uncertain significance rs727503147 GRCh37 Chromosome 18, 44159672: 44159672
50 LOXHD1 NM_144612.6(LOXHD1): c.1730T> G (p.Leu577Arg) single nucleotide variant Uncertain significance rs727503147 GRCh38 Chromosome 18, 46579709: 46579709

Expression for Deafness, Autosomal Recessive 77

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 77.

Pathways for Deafness, Autosomal Recessive 77

GO Terms for Deafness, Autosomal Recessive 77

Cellular components related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.62 LOXHD1 MYO3A

Biological processes related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 LOXHD1 MYO3A PJVK

Sources for Deafness, Autosomal Recessive 77

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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